Literature DB >> 16133176

DNA methylation and replication: implications for the "deletion hotspot" region of FMR1.

K Nichol Edamura1, C E Pearson.   

Abstract

Expansion and hyper-methylation of a CGG repeat tract are the main causes of fragile X syndrome (FRAXA). In some rare instances, FRAXA patients harbor not only an expanded CGG tract, but a deletion encompassing the CGG repeat and flanking sequences as well. Through the use of an SV40 primate replication system, it was possible to determine that CpG methylation and DNA replication may actually mediate the formation of these rare events. Also, the genetically stabilizing AGG interruptions can be lost by replication-mediated CGG deletions.

Entities:  

Mesh：

Year:  2005        PMID： 16133176     DOI： 10.1007/s00439-005-0037-5

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  18 in total

1.  Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.

Authors:  M Krawczak; D N Cooper
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

2.  Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.

Authors:  D Wöhrle; U Salat; D Gläser; J Mücke; M Meisel-Stosiek; D Schindler; W Vogel; P Steinbach
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

Review 3.  Fragile X syndrome and deletions in FMR1: new case and review of the literature.

Authors:  L S Hammond; M M Macias; J C Tarleton; G Shashidhar Pai
Journal:  Am J Med Genet       Date:  1997-11-12

4.  Length of uninterrupted CGG repeats determines instability in the FMR1 gene.

Authors:  E E Eichler; J J Holden; B W Popovich; A L Reiss; K Snow; S N Thibodeau; C S Richards; P A Ward; D L Nelson
Journal:  Nat Genet       Date:  1994-09       Impact factor: 38.330

5.  Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

Authors:  K Grønskov; H Hjalgrim; M O Bjerager; K Brøndum-Nielsen
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

6.  Mosaicism for an FMR1 gene deletion in a fragile X female.

Authors:  Hongxin Fan; Jessica K Booker; Shawn E McCandless; Vandana Shashi; Alison Fleming; Rosann A Farber
Journal:  Am J Med Genet A       Date:  2005-07-15       Impact factor: 2.802

7.  Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.

Authors:  E de Graaff; P Rouillard; P J Willems; A P Smits; F Rousseau; B A Oostra
Journal:  Hum Mol Genet       Date:  1995-01       Impact factor: 6.150

8.  The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.

Authors:  E de Graaff; B B de Vries; R Willemsen; J O van Hemel; S Mohkamsing; B A Oostra; A M van den Ouweland
Journal:  Am J Med Genet       Date:  1996-08-09

9.  Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

Authors:  B B de Vries; J P Fryns; M G Butler; F Canziani; E Wesby-van Swaay; J O van Hemel; B A Oostra; D J Halley; M F Niermeijer
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

10.  Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation.

Authors:  B Schmucker; W G Ballhausen; R A Pfeiffer
Journal:  Hum Genet       Date:  1996-10       Impact factor: 4.132
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  12 in total

Review 1.  Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.

Authors:  Robert D Wells
Journal:  J Biol Chem       Date:  2008-10-28       Impact factor: 5.157

Review 2.  Modeling psychiatric disorders at the cellular and network levels.

Authors:  K J Brennand; A Simone; N Tran; F H Gage
Journal:  Mol Psychiatry       Date:  2012-04-03       Impact factor: 15.992

3.  Size and methylation mosaicism in males with Fragile X syndrome.

Authors:  Poonnada Jiraanont; Madhur Kumar; Hiu-Tung Tang; Glenda Espinal; Paul J Hagerman; Randi J Hagerman; Nuanchan Chutabhakdikul; Flora Tassone
Journal:  Expert Rev Mol Diagn       Date:  2017-11       Impact factor: 5.225

4.  Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.

Authors:  J R Brouwer; E J Mientjes; C E Bakker; I M Nieuwenhuizen; L A Severijnen; H C Van der Linde; D L Nelson; B A Oostra; R Willemsen
Journal:  Exp Cell Res       Date:  2006-10-13       Impact factor: 3.905

Review 5.  Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?

Authors:  Elisabetta Tabolacci; Veronica Nobile; Cecilia Pucci; Pietro Chiurazzi
Journal:  Int J Mol Sci       Date:  2022-05-12       Impact factor: 6.208

Review 6.  The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

Authors:  J R Brouwer; R Willemsen; B A Oostra
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2009-09-05       Impact factor: 3.568

Review 7.  Microsatellite repeat instability and neurological disease.

Authors:  Judith R Brouwer; Rob Willemsen; Ben A Oostra
Journal:  Bioessays       Date:  2009-01       Impact factor: 4.345

8.  Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli.

Authors:  Beata Kosmider; Robert D Wells
Journal:  Nucleic Acids Res       Date:  2006-09-29       Impact factor: 16.971

9.  Mechanisms of genetic instability caused by (CGG)n repeats in an experimental mammalian system.

Authors:  Artem V Kononenko; Thomas Ebersole; Karen M Vasquez; Sergei M Mirkin
Journal:  Nat Struct Mol Biol       Date:  2018-07-30       Impact factor: 15.369

Review 10.  The Metallome as a Link Between the "Omes" in Autism Spectrum Disorders.

Authors:  Janelle E Stanton; Sigita Malijauskaite; Kieran McGourty; Andreas M Grabrucker
Journal:  Front Mol Neurosci       Date:  2021-07-05       Impact factor: 5.639
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